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Human ANPEP wild-type allele is located within 15q25-q26 and is approximately 30 kb in length. This allele, which encodes aminopeptidase N protein, is involved in the modulation of peptide hydrolysis and human infection by cytomegalovirus and coronavirus.
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An animal sterol found in the body tissues (and blood plasma) of vertebrates. It can be found in large concentrations within the liver, spinal cord, and brain. Cholesterol is an important component of the membranes of cells, providing stability. It is the major precursor for the synthesis of vitamin D, of the various steroid hormones, including cortisol, cortisone, and aldosterone in the adrenal glands, and of the sex hormones progesterone, estrogen, and testosterone. Cholesterol also has an important role for the brain synapses as well as in the immune system. In conditions featuring elevated low density lipoproteins (LDL), cholesterol often forms plaque deposits in the walls of arteries, a condition known as atherosclerosis, which is a major contributor to coronary heart disease and other forms of cardiovascular disease.
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This gene plays an inhibitory role in cell survival and proliferation.
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Erythropoietin (193 aa, ~21 kDa) is encoded by the human EPO gene. This protein plays a role in both erythropoiesis and the maintenance of red blood cell volume.
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This gene is involved in mismatch repair and mutations in the gene result in hereditary non-polyposis colon cancer 3.
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This gene is involved in mismatch repair and mutations in the gene result in hereditary non-polyposis colon cancer 4.
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Tumor-associated oncofetal glycoprotein 72 (TAG-72) is a high molecular weight (220-400 kD) complex expressed by a wide variety of human adenocarcinomas. This antigen is expressed by a majority of invasive ductal breast carcinomas, and most colon, pancreatic, gastric, esophageal, lung (non-small cell), ovarian and endometrial adenocarcinomas, and on normal secretory endometrium, but not on other normal tissues. It is not expressed by leukemias, lymphomas, sarcomas, mesotheliomas, melanomas or benign tumors. The monoclonal antibodies against TAG-72 have been widely employed for the immunohistochemical analysis of adenocarcinomas as well as for radioimmunoscintigraphy and radioimmunoguided surgery.